Canonical Allele Identifier: PA2825752026
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 288008
ClinVar RCV Id: RCV000385438 RCV000525552 RCV001535516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Ala783Val
CA1706139
NM_001130978.2:c.2348C>T